Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060500733
rs1060500733
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review. 24525918

2014
dbSNP: rs1060500734
rs1060500734
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1555685156
rs1555685156
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1555685925
rs1555685925
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1555685974
rs1555685974
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		ACATTACTG 0.700 CausalMutation CLINVAR

dbSNP: rs1555685978
rs1555685978
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555686070
rs1555686070
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555686071
rs1555686071
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555686469
rs1555686469
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1555686604
rs1555686604
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		GT 0.700 CausalMutation CLINVAR

dbSNP: rs1555686608
rs1555686608
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia. 20685751

2010
dbSNP: rs1555686610
rs1555686610
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555687388
rs1555687388
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1568206107
rs1568206107
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs281875324
rs281875324
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling. 22316667

2012
dbSNP: rs281875324
rs281875324
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. 20101697

2010
dbSNP: rs281875324
rs281875324
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. 18178612

2008
dbSNP: rs281875324
rs281875324
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. 12417513

2002
dbSNP: rs377767328
rs377767328
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638

2006
dbSNP: rs377767331
rs377767331
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR SMAD genes in juvenile polyposis. 10441006

1999
dbSNP: rs377767334
rs377767334
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		TG 0.700 CausalMutation CLINVAR Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. 20101697

2010
dbSNP: rs377767334
rs377767334
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		TG 0.700 CausalMutation CLINVAR Mutations in the SMAD4/DPC4 gene in juvenile polyposis. 9582123

1998
dbSNP: rs377767347
rs377767347
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. 20101697

2010
dbSNP: rs377767347
rs377767347
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. 17873119

2007
dbSNP: rs377767347
rs377767347
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. 15235019

2004